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rs104886172

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886172(A;A)
Make rs104886172(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108606794
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886172
ebirs104886172
HLIrs104886172
Exacrs104886172
Varsomers104886172
Maprs104886172
PheGenIrs104886172
hapmaprs104886172
1000 genomesrs104886172
hgdprs104886172
ensemblrs104886172
gopubmedrs104886172
geneviewrs104886172
scholarrs104886172
googlers104886172
pharmgkbrs104886172
gwascentralrs104886172
openSNPrs104886172
23andMers104886172
23andMe allrs104886172
SNP Nexus

SNPshotrs104886172
SNPdbers104886172
MSV3drs104886172
GWAS Ctlgrs104886172
Max Magnitude0
ClinVar
Risk rs104886172(A;A)
Alt rs104886172(A;A)
Reference rs104886172(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107850024G>A
CLNSRC ARUP COL4A5
CLNACC RCV000021383.1,


[PMID 11462238] Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

OMIM301050
Desc
Variant
Relatedalso